Copy-number variation and association studies of human disease

作者: Steven A McCarroll , David M Altshuler

DOI: 10.1038/NG2080

关键词: GenotypingSingle-nucleotide polymorphismCopy-number variationDiseaseHuman geneticsPhenotypeGenetic associationMendelian inheritanceGeneticsBiology

摘要: … information about inherited copy-number variation, indicate the importance of systematically assessing copy-number variants (CNVs), including common copy-number polymorphisms (…

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